Application and development of molecular diagnostic techniques in human assisted reproduction / 中华检验医学杂志

ABSTRACT

In the past few years, with the breakthrough development of DNA sequencing technology, preimplantation genetic testing (PGT) has been widely used as an important part of assisted reproductive technology (ART). The progress of next generation sequencing (NGS) technology and the improvement of resolution, as well as the comprehensive application of molecular diagnostic technology makes it possible to perform the extensive and comprehensive chromosome screening and the clinical valuable detection of small gene fragment missing and repetition simultaneously, which is of great significance in terms of improving the pregnancy rate and reducing the abortion rate, multiplets rate and malformation rate. The common PGT molecular diagnostic techniques involves fluorescence in situ hybridization (FISH), single nucleotide polymorphism array(SNP-array), quantitative polymerase chain reaction(qPCR) and NGS. And each of them has its own highlights in clinical application and there are many uncertainties that are difficult to control. Moreover, ethical concerns brought about by technological progress also need to be addressed.